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Laboratory Medicine & Molecular Diagnostics

Haemochromatosis

Parameter Method Sample Type Significance

1

hereditary haemochromatosis (HH) type 1

PCR

Blood

Detect common mutations in the HFE gene causing hereditary haemochromatosis (HH) type 1

2

HFE

Multiplex PCR

Blood

Simultaneous detection of the two most common mutations in the HFF gene: H63D and CP82Y

3

HFE mutations

PCR-Hybridization

Blood

Detection of 18 mutations: twelve HFE mutations, four TFR2 mutations and two FPNI mutations

4

HFE gene mutation

PCR-Hybridization

Blood

Detection of 3 HFEgene mutations: C282Y, H63D, S65C